Name: [Hs03924990_cn] [TSC2]
Creator: Thermo Fisher Scientific
Keywords: [TSC2] Assay, [tuberous sclerosis 2] Assay

Genomic Map

LOADING...

×

Back To Top

Assay Details

Target Gene Details

Entrez Gene ID:	7249
Gene Name:	tuberous sclerosis 2
Gene Aliases:	LAM, PPP1R160, TSC4
Location:	Chr.16:2047804-2088720 on Build GRCh38
Assay Gene Location:	Within Intron 27

Gene Symbol	Transcript Accession	Protein ID
TSC2	NM_000548.4	NP_000539.2
	NM_001077183.2	NP_001070651.1
	NM_001114382.2	NP_001107854.1
	NM_001318827.1	NP_001305756.1
	NM_001318829.1	NP_001305758.1
	NM_001318831.1	NP_001305760.1
	NM_001318832.1	NP_001305761.1
	XM_005255529.4	XP_005255586.2
	XM_005255531.4	XP_005255588.2
	XM_011522636.2	XP_011520938.1
	XM_011522637.2	XP_011520939.1
	XM_011522638.2	XP_011520940.2
	XM_011522639.2	XP_011520941.1
	XM_011522640.2	XP_011520942.1
	XM_017023615.1	XP_016879104.1
	XM_017023616.1	XP_016879105.1
	XM_017023617.1	XP_016879106.1
	XM_017023618.1	XP_016879107.1
	AB210000.1
	AK295672.1
	AK295728.1
	AK299343.1
	BC150300.1
	BX647816.1	CAI46010.1
	KJ534954.1
	KJ534955.1
	KJ534956.1
	KJ534957.1
	KJ534958.1
	KJ534982.1
	KJ534983.1
	KJ534984.1
	KJ534985.1
	KJ535011.1
	KJ535022.1
	KJ535038.1
	KJ535039.1
	KJ535051.1
	KJ535091.1
	KJ535094.1
	X75621.1	CAA53287.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	FAM234A LOC100134368 CACNA1H SNORA10 TPSD1 PRR35 NDUFB10 SNRNP25 CCNF MLST8 NME4 RAB40C MRPS34 LOC101929280 TPSG1 TBL3 STUB1 PIGQ BRICD5 TPSAB1 HBM MRPL28 CASKIN1 GFER RHBDF1 AXIN1 CLCN7 LOC105371184 MPG SSTR5 LINC00235 DECR2 SNORA78 LINC00254 SNHG9 FBXL16 NPRL3 CAPN15 HBZ WASIR2 RHOT2 MIR6767 ABCA17P MIR4717 LOC100287175 LOC105371038 MIR3178 HAGHL MIR4516 LOC107987233 TSC2 MIR6859-4 PDIA2 RNPS1 TELO2 RHBDL1 CCDC154 MSRB1 UBE2I TPSB2 RAB11FIP3 LOC729652 EME2 TBC1D24 LOC105371046 NOXO1 MIR3177 MIR3180-5 HN1L ZNF598 NME3 MIR940 MIR6768 SYNGR3 MIR3677 NUBP2 NPW MIR662 WFIKKN1 METRN FAM173A RAB26 MIR5587 RNF151 HS3ST6 PDPK1 ABCA3 HBQ1 AMDHD2 CHTF18 MEIOB RPUSD1 NARFL MAPK8IP3 SLC9A3R2 SOX8 GNPTG FLJ42627 PRSS27 ECI1 MSLN DNASE1L2 TRAF7 ARHGDIG NTN3 C16orf91 BAIAP3 MIR3176 WDR90 PGP GNG13 UNKL RGS11 PTX4 JMJD8 LOC105371047 LOC106660606 RPL3L NTHL1 ERVK13-1 SNHG19 TMEM204 HBA2 LMF1-AS1 MIR1225 SPSB3 DDX11L10 LOC107984876 KCTD5 NHLRC4 RPS2 C16orf59 LOC105371049 HBA1 E4F1 PRSS29P CRAMP1 IFT140 SSTR5-AS1 METTL26 MIR6511B1 CEMP1 SNORD60 TMEM8A FAHD1 LOC105371045 RPL23AP5 WDR24 C1QTNF8 ATP6V0C MCRIP2 POLR3K LUC7L TSR3 SNORA64 LMF1 LOC652276 PRR25 CCDC78 IGFALS PKD1 HAGH
nsv471072	Chr.16:1971892 - 2317508 on Build GRCh38	Loss	NTHL1 SNHG19 MIR1225 ABCA3 MIR4717 MIR4516 TSC2 LOC105371049 MLST8 RNPS1 E4F1 SLC9A3R2 MIR6511B1 SNORD60 TBL3 BRICD5 ECI1 CASKIN1 GFER DNASE1L2 NOXO1 TRAF7 MIR3180-5 ZNF598 PGP MIR940 SYNGR3 MIR3677 NPW LOC106660606 RAB26 PKD1
nsv952901	Chr.16:1888800 - 2135899 on Build GRCh38	Deletion	SNHG9 RPL3L NTHL1 RNF151 MIR1225 HS3ST6 SNORA10 GFER NOXO1 NDUFB10 SNORA64 ZNF598 MIR4516 SYNGR3 RPS2 TSC2 LOC105371049 NPW MSRB1 SNORA78 SLC9A3R2 MIR6511B1 PKD1 TBL3
nsv1160329	Chr.16:1961727 - 2128574 on Build GRCh38	Deletion	SNHG9 NTHL1 RNF151 MIR1225 SNORA10 GFER NOXO1 NDUFB10 SNORA64 ZNF598 SYNGR3 RPS2 TSC2 LOC105371049 NPW SNORA78 SLC9A3R2 MIR6511B1 PKD1 TBL3
nsv571190	Chr.16:2055054 - 2200730 on Build GRCh38	Loss	MIR4516 SNHG19 TSC2 LOC105371049 MIR1225 CASKIN1 TRAF7 MIR6511B1 MIR3180-5 SNORD60 RAB26 PKD1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	SNHG19 MIR1225 PDPK1 ABCA3 MIR6767 ABCA17P MIR4717 AMDHD2 MIR3178 MIR4516 CCNF C16orf59 TSC2 LOC105371049 MLST8 RNPS1 E4F1 MIR6511B1 CEMP1 SNORD60 LOC729652 BRICD5 ATP6V0C TBC1D24 ECI1 CASKIN1 DNASE1L2 TRAF7 NTN3 MIR3180-5 PGP MIR940 MIR6768 MIR3677 LOC652276 LOC106660606 RAB26 PKD1